Congenital heart disease and genetic syndromes: new insights into molecular mechanisms
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Congenital heart disease and genetic syndromes: new insights into molecular mechanisms
Authors
Keywords
-
Journal
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Volume 17, Issue 9, Pages 861-870
Publisher
Informa UK Limited
Online
2017-07-27
DOI
10.1080/14737159.2017.1360766
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations
- (2017) Yan-Jie Li et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
- (2017) Esther Lopez-Rivera et al. NEW ENGLAND JOURNAL OF MEDICINE
- De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
- (2016) Brieana Fregeau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
- (2016) Lia Boyle et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
- (2016) Francesco Vetrini et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Further evidence that variants inPPP1CBcause a rasopathy similar to Noonan syndrome with loose anagen hair
- (2016) Regina M. Zambrano et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair
- (2016) Karen W. Gripp et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
- (2016) Elisabeth E. Mlynarski et al. HUMAN GENETICS
- What Is New in Genetics of Congenital Heart Defects?
- (2016) Maria Cristina Digilio et al. Frontiers in Pediatrics
- Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
- (2015) Tingwei Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
- (2015) Elisabeth E. Mlynarski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation
- (2015) Silvia E. Racedo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Coronary artery ectasia in Noonan syndrome: Report of an individual withSOS1mutation and literature review
- (2015) Giulio Calcagni et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Developmental trajectories in 22q11.2 deletion syndrome
- (2015) Ann Swillen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations
- (2015) Jonathan H. Chung et al. HUMAN MUTATION
- Recent advances in RASopathies
- (2015) Yoko Aoki et al. JOURNAL OF HUMAN GENETICS
- Rare variants inSOS2andLZTR1are associated with Noonan syndrome
- (2015) Guilherme Lopes Yamamoto et al. JOURNAL OF MEDICAL GENETICS
- Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect
- (2015) Jingjing Zhang et al. Molecular Cytogenetics
- 22q11.2 deletion syndrome
- (2015) Donna M. McDonald-McGinn et al. Nature Reviews Disease Primers
- Central 22q11.2 deletions
- (2014) Patrick Rump et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Morphogenesis and molecular considerations on congenital cardiac septal defects
- (2014) Adriana C. Gittenberger-de Groot et al. ANNALS OF MEDICINE
- HIC2 Is a Novel Dosage-Dependent Regulator of Cardiac Development Located Within the Distal 22q11 Deletion Syndrome Region
- (2014) Iain M. Dykes et al. CIRCULATION RESEARCH
- Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
- (2014) E. Flex et al. HUMAN MOLECULAR GENETICS
- Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
- (2014) Caterina Cancrini et al. JOURNAL OF PEDIATRICS
- RAF1 mutations in childhood-onset dilated cardiomyopathy
- (2014) Perundurai S Dhandapany et al. NATURE GENETICS
- Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome
- (2014) Chantal Sellier et al. PLoS One
- Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
- (2014) Gabriela M Repetto et al. BMJ Open
- MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome
- (2014) Daniele Merico et al. Frontiers in Neurology
- Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
- (2013) Yoko Aoki et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
- (2013) M. R. Sailani et al. GENOME RESEARCH
- Noonan syndrome
- (2013) Amy E Roberts et al. LANCET
- 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases
- (2013) Shabnam Peyvandi et al. PEDIATRIC CARDIOLOGY
- Hedgehog Agonist Therapy Corrects Structural and Cognitive Deficits in a Down Syndrome Mouse Model
- (2013) I. Das et al. Science Translational Medicine
- An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects
- (2012) Christine Ackerman et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population
- (2012) Huiqing Li et al. Circulation-Cardiovascular Genetics
- The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion
- (2012) Laura E. Briggs et al. DIFFERENTIATION
- 22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development
- (2012) T. M. Maynard et al. HUMAN MOLECULAR GENETICS
- Early-occurring proliferation defects in peripheral tissues of the Ts65Dn mouse model of Down syndrome are associated with patched1 over expression
- (2012) Claudia Fuchs et al. LABORATORY INVESTIGATION
- Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction
- (2012) M. Cristina Digilio et al. PEDIATRIC CARDIOLOGY
- Transcriptional Control in Cardiac Progenitors: Tbx1 Interacts with the BAF Chromatin Remodeling Complex and Regulates Wnt5a
- (2012) Li Chen et al. PLoS Genetics
- Complex Congenital Heart Disease in Unaffected Relatives of Adults With 22q11.2 Deletion Syndrome
- (2011) Jodi-Ann M. Swaby et al. AMERICAN JOURNAL OF CARDIOLOGY
- Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
- (2011) Maria Cristina Digilio et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome
- (2011) Nicole Philip et al. BEHAVIOR GENETICS
- APP-dependent up-regulation of Ptch1 underlies proliferation impairment of neural precursors in Down syndrome
- (2011) Stefania Trazzi et al. HUMAN MOLECULAR GENETICS
- SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
- (2011) Francesca Lepri et al. HUMAN MUTATION
- MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation
- (2011) Xue Wu et al. JOURNAL OF CLINICAL INVESTIGATION
- Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation
- (2011) Talita M. Marin et al. JOURNAL OF CLINICAL INVESTIGATION
- Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
- (2011) Donna M. McDonald-McGinn et al. MEDICINE
- Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome
- (2010) Kazuo Momma AMERICAN JOURNAL OF CARDIOLOGY
- Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
- (2010) Simone Martinelli et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
- (2010) Marco Tartaglia et al. Annals of the New York Academy of Sciences
- Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3 Signaling
- (2010) T. Edouard et al. MOLECULAR AND CELLULAR BIOLOGY
- GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
- (2009) Anna Sarkozy et al. HUMAN MUTATION
- Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
- (2009) Viviana Cordeddu et al. NATURE GENETICS
- A restricted spectrum of NRAS mutations causes Noonan syndrome
- (2009) Ion C Cirstea et al. NATURE GENETICS
- Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome
- (2008) Elizabeth Goldmuntz et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Intracardiac septation requires hedgehog-dependent cellular contributions from outside the heart
- (2008) M. M. Goddeeris et al. DEVELOPMENT
- Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
- (2008) Beverly S. Emanuel Developmental Disabilities Research Reviews
- Genetic syndromes and congenital heart defects: how is surgical management affected?
- (2008) Roberto Formigari et al. EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
- Genotype differences in cognitive functioning in Noonan syndrome
- (2008) E. I. Pierpont et al. GENES BRAIN AND BEHAVIOR
- Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development
- (2008) J. Newbern et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started